CurrentCommunity Health Plan WashingtonPolicy N/A

V1.2025 Concert Genetic Testing: Prenatal and Preconception Carrier Screening (PDF)

Defines medical necessity criteria for prenatal and preconception carrier genetic testing (expanded and basic panels and gene-specific tests) including which CPT codes correspond to covered testing and when testing is investigational or medically necessary. Applies to members/enrollees considering pregnancy or currently pregnant and to certain high-risk/family-history indications.

Policy Summary

PayerCommunity Health Plan Washington

PolicyV1.2025 Concert Genetic Testing: Prenatal and Preconception Carrier Screening (PDF)

Policy CodePolicy N/A

Change TypeMultiple coding and criteria updates (material and administrative)

Effective DateN/A

Next Review DateN/A

Key ActionProviders must document pregnancy/planning status or relevant family history/known familial pathogenic or likely pathogenic variant per the specific test criteria to support medical necessity.

SourceLink

POLICY UPDATE CHANGES

In CFTR sequencing criteria, changed number of tested variants from 23 to 100 consistent with 2023 ACMG statement.

Added CPT code 81361 to Basic Carrier Screening Panels to reflect inclusion of hemoglobinopathy tests on panel.

Updated HBA1/HBA2/HBB sequencing criteria to align with current ACOG recommendations for universal hemoglobinopathy screening.

Multiple CPT/PLA codes were added and removed across revisions for expanded and targeted panels (e.g., added 81336, 81405, 81408, 81479; removed 81329, 81403, 81408 in places).

Added investigational criterion to Ashkenazi Jewish Carrier Panel Testing which was previously missing.

Updated FMR1 Repeat Analysis criteria name to distinguish carrier screening from diagnostic testing.

Administrative alignment across policies: minor rewording and background/reference page number updates; moved General Criteria for Targeted Carrier Screening to separate policy 'Genetic Testing: General Approach to Genetic and Molecular Testing'.

MultipleCovered/Referenced CPTs

MultipleCovered Indications

Other indicationsInvestigational Scope

7Conditions with specific criteria

>1Revisions noted

Coverage Summary

Scope: This policy addresses prenatal and preconception carrier screening for autosomal recessive and X-linked single-gene disorders and applies to members who are considering pregnancy or currently pregnant.

Coverage stance (high level): Expanded carrier screening panels and basic carrier screening panels and gene-specific tests have specified medically necessary indications in the criteria (e.g., panels that include CFTR and SMN1 or meet the listed gene-specific criteria). Testing outside the specified indications is designated investigational (for example, expanded panels and basic panels are investigational for indications other than those listed).

The policy identifies CPT codes corresponding to covered testing and documents when panels/tests are medically necessary versus investigational; providers must document pregnancy/planning status or relevant family history/known familial pathogenic or likely pathogenic variant per the specific test criteria.

Quick Facts — Prenatal & Preconception Carrier Screening

Covered IndicationsPreconception or currently pregnant individuals; testing also covered for reproductive partners when partner is known carrier or family history present

Investigational ScopeCarrier panels and gene tests considered investigational when used for indications other than pregnancy/planning or specified high‑risk/family history scenarios

Conditions with specific criteriaCFTR (including ACMG‑100 sequencing), SMN1/SMA, FMR1 (Fragile X), HBA1/HBA2/HBB (hemoglobinopathies), Ashkenazi Jewish panel, DMD — each has defined medical‑necessity triggers

Applies‑to populationMembers/enrollees considering pregnancy or currently pregnant and select high‑risk individuals (e.g., close relatives with known pathogenic/likely pathogenic variants, Ashkenazi Jewish ancestry)

Testing types referencedExpanded and basic carrier panels, targeted variant analysis, sequencing and deletion/duplication analysis, CFTR intron 9 polyT/TG, FMR1 CGG repeat analysis

Key policy highlights/notesReports should note residual risk after negative results; genetic counseling recommended; ACMG updated CFTR minimum variant set to 100; hemoglobinopathy sequencing does not include fetal hemoglobin testing via circulating fetal DNA

Revisions noted2023–2024 updates: CFTR variant set changed from 23 to 100; CPT code 81361 added to basic panels; added/clarified investigational statements (e.g., Ashkenazi panel, fetal hemoglobin cfDNA exclusion)

Medical-Necessity Criteria

Expanded Carrier Screening Panels

Expanded carrier screening panels (81243, 81257, 81329, 81336, 81405, 81408, 81479, 0400U, 81443*) may be considered medically necessary when:

ALL of the following

The member/enrollee is considering pregnancy or is currently pregnant
The panel includes the genes CFTR and SMN1

Expanded Carrier Screening Panels - Investigational

Expanded carrier screening panels (81243, 81257, 81329, 81336, 81405, 81408, 81479, 0400U, 81443*) are considered investigational for all other indications

*Fragile X (81243) and SMA (81329) carrier screening may be billed along with 81443 if performed separately; if billed with 81443, Fragile X criteria must still be met.

Coding

Expanded Carrier Screening - example/common CPTsCPT

81243	FMR1 repeat analysis (fragile X) - referenced as part of expanded panels
81257	HBA1 targeted variant analysis (hemoglobinopathy)
81329	SMN1 sequencing/deletion-duplication (SMA)
81336	SMN1 sequencing/deletion-duplication (alternate)
81405	Sequencing; multiple genes, panel
81408	DMD sequencing/deletion-duplication (panel)
81479	Unlisted molecular pathology procedure (used for some targeted analyses like DMD)
0400U	Proprietary/PLA code referenced in expanded panels
81443	Carrier screening panel, multiple genes (expanded carrier screen)

Basic Carrier Screening CPTsCPT

81220	CFTR mutation analysis panel
81222	CFTR deletion/duplication analysis
81223	CFTR sequencing
81243	FMR1 repeat analysis
81257	HBA1 targeted variant analysis
81329	SMN1 sequencing/deletion-duplication
81336	SMN1 sequencing/deletion-duplication
81361	HBB targeted variant analysis
0449U	PLA/proprietary code referenced

CFTR-specific CPTsCPT

81221	CFTR targeted variant analysis (one known familial variant)
81223	CFTR sequencing (complete)
81222	CFTR deletion/duplication analysis
81224	CFTR intron 9 polyT and TG analysis

SMN1 / SMA CPTsCPT

81337	SMN1 targeted variant analysis
81403	SMN1 targeted variant analysis (alternate)
81329	SMN1 sequencing/del-dup
81336	SMN1 sequencing/del-dup
81401	SMN2 analysis or panel component
0236U	PLA/proprietary code referenced for SMN2

Fragile X CPTsCPT

81243	FMR1 CGG repeat analysis
81244	FMR1 analysis (alternate)
81243	Listed again as can be billed with 81443 if performed separately

Hemoglobinopathy CPTsCPT

81257	HBA1 targeted variant analysis
81258	HBA2 targeted variant analysis
81361	HBB targeted variant analysis
81362	HBB targeted variant analysis (alternate)
81259	HBA1/HBA2 sequencing and deletion/duplication analysis
81269	HBA1/HBA2 sequencing and deletion/duplication analysis (alternate)
81363	HBB sequencing and deletion/duplication analysis
81364	HBB sequencing and deletion/duplication analysis (alternate)

DMD CPTsCPT

81479	Unlisted molecular pathology used for some DMD targeted analyses
81161	DMD sequencing
81408	DMD deletion/duplication analysis
0218U	PLA/proprietary code referenced for DMD

Referenced CPT/HCPCS/PLA codes mentioned in revision history and policy (examples added/removed across revisions)mixed

81222	CFTR-related? (listed as added to Basic Carrier Screening Panels)
81223	CFTR-related? (listed as added to Basic Carrier Screening Panels)
81243	FMR1 (Fragile X) repeat analysis (mentioned in billing interaction note with 81443)
81329	Previously listed for panels; removed in several revisions
81336	Added to Expanded Carrier Screening Panels in revisions
81403	Removed in revisions (DMD context)
81405	Added to Expanded Carrier Screening Panels in revisions
81408	Added to Expanded Carrier Screening Panels in revisions; removed in other places
81443	Expanded carrier screening panel code (billing note with 81243)
81479	Added for Duchenne and Becker Muscular Dystrophy Carrier Screening and DMD sequencing/deletion-duplication

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Provider Actions

Documentation Required

Indication documentation required

Providers must document pregnancy/planning status or relevant family history/known familial pathogenic or likely pathogenic variant as required by the specific test criteria to support medical necessity.

Prior Authorization

Prior authorization may be required per plan

Prior authorization may be required by the plan. Providers should obtain prior authorization where required and reference the Concert Platform for a comprehensive list of registered tests when requesting coverage for carrier screening panels or individual tests.

Background and Evidence

Background: Carrier screening is performed to identify individuals who carry pathogenic variants for autosomal recessive or X-linked single-gene disorders; carriers are typically asymptomatic but can pass disease-causing variants to offspring.

The policy emphasizes that a negative carrier screening result reduces but does not eliminate the chance of being a carrier — there remains a residual risk that varies by test method, number of mutations assessed, and the patient's self-reported ethnicity or family history.

Family history and self-reported ethnicity inform risk-based screening; high-risk partners (e.g., specific ancestries such as Ashkenazi Jewish or those with a family history) should be offered appropriate targeted screening, and if a high-risk partner is found to be a carrier the reproductive partner should be offered testing.

Genetic counseling is strongly recommended for patients considering expanded carrier screening and when carriers or at-risk relatives are identified; professional society guidance from ACOG and ACMG is referenced throughout the policy to support testing approaches (including recommendations to offer CFTR and SMN1 screening to all pregnant or planning patients and guidance on tiered carrier screening).

Label	Citation
ACOG practice bulletins referenced	ACOG Practice Bulletins No. 690 and No. 691 (reaffirmed 2023) recommending carrier screening approaches, universal offers for CF and SMA, and hemoglobinopathy guidance (see chunks 34, 36, 45).
ACMG practice resource	ACMG practice resource on screening for autosomal recessive and X-linked conditions during pregnancy/preconception (Gregg et al. 2021) and position on tiered carrier screening (chunk 35).
ACMG CFTR technical standard	ACMG CFTR technical standard (Deignan et al. 2020) recommending reporting of R117H and polyT; cited in references (chunk 57) and discussed in chunk 39.
ACMG CFTR update	ACMG 2023 updated recommendation increasing minimum CFTR variant set to 100 (Deignan et al. 2023) (chunk 38; reference in chunk 57/59).
EMQN DMD guidance	EMQN best practice guidelines for dystrophinopathies (Fratter et al. 2020) recommending full cohort level 1 and 2 testing when familial variant unknown (~99% sensitivity) (chunks 48 and 57).
GeneReviews	GeneReviews: Dystrophinopathies (Darras et al., updated 2022) recommending evaluation and molecular testing of at-risk female relatives for heterozygous status and cardiac surveillance (chunks 47 and 57).

Definitions:

Close relatives: first-, second-, and third-degree relatives on the same side of the family (first-degree: parents, siblings, children; second-degree: grandparents, aunts/uncles, nieces/nephews, grandchildren, half-siblings; third-degree: great grandparents, great aunts/uncles, great grandchildren, first cousins).

Carrier screening: testing to identify individuals who carry a pathogenic variant for an autosomal recessive or X-linked condition that could be passed to offspring.

Revision History

addedLatest

Updated background accordingly. In CFTR sequencing criteria, changed number of tested variants from 23 to 100 consistent with 2023 ACMG statement.

addedLatest

Updated Policy Reference Table and criteria set. Added CPT code 81361 to Basic Carrier Screening Panels to reflect inclusion of hemoglobinopathy tests on panel.

revised

Policy Summary

PayerCommunity Health Plan Washington

PolicyV1.2025 Concert Genetic Testing: Prenatal and Preconception Carrier Screening (PDF)

Policy CodePolicy N/A

Change TypeMultiple coding and criteria updates (material and administrative)

Effective DateN/A

Next Review DateN/A

SourceLink

On This Page

Basic Carrier Screening Panels (<=14 genes)

Basic carrier screening panels (CFTR, SMN1/2, FMR1, HBB/HBA1/HBA2, not more than 14 genes) (81220, 81222, 81223, 81243, 81257, 81329, 81336, 81361, 0449U) may be considered medically necessary when:

See Genetic Testing: General Approach to Genetic and Molecular Testing for criteria related to carrier screening not specifically discussed

Investigational for: Basic carrier screening panels (listed CPTs) are considered investigational for all other indications

CFTR Targeted Variant Analysis (81221)

Cystic fibrosis targeted variant analysis may be considered medically necessary when:

The member/enrollee or the member/enrollee's reproductive partner is considering pregnancy or is currently pregnant

The member/enrollee has a close relative with a known pathogenic or likely pathogenic variant in CFTR

Investigational for: CFTR targeted mutation analysis (81221) is investigational for all other indications

CFTR Sequencing / Deletion-Duplication / Mutation Panel (81223, 81222, 81220)

May be considered medically necessary when:

The member/enrollee or the member/enrollee's reproductive partner is considering pregnancy or is currently pregnant

The member/enrollee's reproductive partner is a known carrier for cystic fibrosis

Investigational for: These CFTR tests using at minimum the ACMG-100 variant panel are investigational for all other indications

CFTR Intron 9 PolyT and TG Analysis (81224)

May be considered medically necessary when:

The member/enrollee or the member/enrollee's reproductive partner is considering pregnancy or is currently pregnant

The member/enrollee is known to have an R117H variant in the CFTR gene

Investigational for: Analysis (81224) is investigational for all other indications

SMN1 Targeted Variant Analysis (81337, 81403)

SMA carrier screening via SMN1 targeted variant analysis may be considered medically necessary when:

The member/enrollee or the member/enrollee's reproductive partner is considering pregnancy or is currently pregnant

The member/enrollee has a close relative with a known pathogenic or likely pathogenic variant in SMN1

Investigational for: SMN1 targeted variant analysis (81337, 81403) is investigational for all other indications

SMN1 Sequencing/Del-Dup and SMN2 Del-Dup (81329, 81336, 81401, 81405, 0236U)

May be considered medically necessary when:

The member/enrollee or reproductive partner is considering pregnancy or is currently pregnant

The member/enrollee's reproductive partner is a known carrier for spinal muscular atrophy

Investigational for: These SMN1/SMN2 sequencing/deletion/duplication tests are investigational for all other indications

FMR1 Repeat Analysis for Carrier Screening (81243, 81244)

Fragile X carrier screening via FMR1 CGG repeat analysis may be considered medically necessary when:

Member/enrollee has been diagnosed with premature ovarian insufficiency or elevated FSH before age 40

The member/enrollee is considering a pregnancy or is currently pregnant

One of the following close-relative conditions is present: close relative with Fragile X (>200 CGG repeats), close relative who is a known carrier (55-200 repeats), close relative with unexplained intellectual disability/developmental delay/ASD, or close relative diagnosed with premature ovarian insufficiency or elevated FSH before age 40

Investigational for: Fragile X carrier screening via FMR1 CGG repeat analysis is investigational for all other indications

If 81243 is billed with 81443, the patient should still meet Fragile X syndrome criteria.

HBA1/HBA2/HBB Targeted Variant Analysis (81257, 81258, 81361, 81362)

Hemoglobinopathy targeted variant analysis may be considered medically necessary when:

The member/enrollee or the member/enrollee's reproductive partner is considering pregnancy or is currently pregnant

The member/enrollee has a close relative with a known pathogenic or likely pathogenic variant in HBA1, HBA2, or HBB

Investigational for: These targeted variant analyses are investigational for all other indications

HBA1/HBA2/HBB Sequencing and/or Deletion/Duplication Analysis (81259, 81269, 81363, 81364)

May be considered medically necessary when:

The member/enrollee or the member/enrollee's reproductive partner is considering pregnancy or is currently pregnant

Investigational for: These sequencing/duplication/deletion analyses are investigational for all other indications, including fetal hemoglobin testing via circulating fetal DNA

Ashkenazi Jewish Carrier Panel (81412)

Ashkenazi Jewish carrier panel testing may be considered medically necessary when:

The member/enrollee or the member/enrollee's reproductive partner is considering pregnancy or is currently pregnant

The member/enrollee is of Ashkenazi Jewish ancestry

The panel includes, at a minimum, screening for the specified genes/conditions (HEXA, ASPA, CFTR, ELP1, BLM, FANCC, SMPD1, GBA, MCOLN1, G6PC1, TMEM216, BCKDHB, PCDH15, CLRN1)

Investigational for: Ashkenazi Jewish carrier panel testing (81412) is investigational for all other indications

Note: If only one partner is Ashkenazi Jewish, testing that partner is considered medically necessary; testing of the other partner is medically necessary only if the Ashkenazi partner's result is positive

DMD Targeted Variant Analysis (81479)

Duchenne/Becker muscular dystrophy targeted variant analysis may be considered medically necessary when:

The member/enrollee is considering pregnancy or is currently pregnant

The member/enrollee has a close relative with a known pathogenic or likely pathogenic variant in DMD

Investigational for: DMD targeted variant analysis (81479) is investigational for all other indications

DMD Sequencing and/or Deletion/Duplication Analysis (81161, 81408, 0218U)

May be considered medically necessary when:

The member/enrollee is considering pregnancy or is currently pregnant

The member/enrollee has a first- or second-degree relative diagnosed with Duchenne or Becker muscular dystrophy

Investigational for: DMD sequencing/deletion/duplication analyses are investigational for all other indications

Selected Condition-Specific Recommendations and Criteria (excerpt)

Guidance and coverage criteria references from professional societies and policy revision notes:

CFTR (cystic fibrosis) variant testing: report R117H status and associated polyT tract; for adult carrier screening, report polyT when R117H detected; labs may report polyT in partner of an individual with pathogenic/likely pathogenic variant (ACMG 2020).

SMN1 targeted variant analysis: offer carrier screening to individuals with positive family history; relatives of carriers are at risk and should be offered testing and genetic counseling (ACOG Practice Bulletin No. 691, 2017 reaffirmed 2023).

SMN1 sequencing and/or deletion/duplication and SMN2 deletion/duplication analysis: screening for spinal muscular atrophy should be offered to all women considering pregnancy or currently pregnant; review molecular testing reports when family history present; if unavailable, recommend SMN1 deletion testing for low-risk partner (ACOG No. 691).

FMR1 repeat analysis (Fragile X) for carrier screening: recommend premutation carrier screening for women with family history of fragile X-related disorders or intellectual disability suggestive of fragile X and those considering pregnancy or currently pregnant; offer testing for women with unexplained ovarian insufficiency or elevated FSH before age 40; provide genetic counseling for intermediate/premutation/full mutation carriers; offer prenatal diagnostic testing to known carriers (ACOG No. 691 & No. 605; ACMG guidance).

Hemoglobinopathies (HBA1, HBA2, HBB) targeted variant analysis and sequencing/deletion/duplication: ACOG recommends offering universal hemoglobinopathy testing to individuals considering pregnancy or currently pregnant at initial prenatal visit; testing may be hemoglobin electrophoresis or molecular testing including expanded carrier screening (ACOG Practice Advisory 2022 reaffirmed 2023).

Ashkenazi Jewish carrier panel testing: offer CF, Canavan, familial dysautonomia, and Tay-Sachs screening to Ashkenazi Jewish individuals who are pregnant or considering pregnancy; consider additional condition screening as listed; when only one partner is Ashkenazi Jewish, screen that partner first and if carrier then test the other partner (ACOG No. 691).

DMD (Duchenne and Becker) targeted variant analysis: evaluate at-risk female relatives and offer molecular testing if familial DMD pathogenic variant known to identify heterozygous females for cardiac surveillance (GeneReviews).

DMD sequencing and/or deletion/duplication analysis: when familial pathogenic variant is unknown and affected male not available, offer full cohort of level 1 and 2 testing (CNV analysis and sequencing) to female relatives as cost-effective with ~99% sensitivity (EMQN 2020).

Billing Rule

Fragile X and SMA billing with panel

Fragile X (81243) and SMA (81329) may be billed along with expanded carrier panel code 81443 if performed separately from the remainder of the panel per CPT guidelines; however, when billed with a panel the Fragile X and SMA-specific coverage criteria still apply.

Affected CPT codes: 81243
Affected CPT codes: 81329
Affected CPT codes: 81443

Documentation Required

Report polyT status with CFTR R117H

For CFTR testing, laboratories should report R117H status and the associated polyT tract results. For adult carrier screening, polyT status should be reported when R117H is detected; labs may also consider reporting polyT in the partner of an individual with a pathogenic or likely pathogenic CFTR variant.

Documentation Required

Genetic counseling and family testing

When an individual is identified as a carrier or has a relevant family history, offer genetic counseling and recommend testing of the reproductive partner and at-risk relatives in accordance with ACOG and ACMG guidance to inform reproductive decision making.

Prior Authorization

Panel coding interaction note

If FMR1 (81243) is billed together with an expanded carrier panel (81443), the patient must still meet Fragile X–specific coverage criteria (Fragile X indications must be satisfied for coverage).

Affected CPT codes: 81243
Affected CPT codes: 81443

Clarified investigational statement that testing does not include fetal hemoglobin testing via circulating fetal DNA. Updated HBA1/HBA2/HBB sequencing criteria to align with current ACOG recommendations for universal hemoglobinopathy screening.

revisedLatest

Policy Reference Table and Expanded Carrier Screening Panels updated; clarifying billing notes added. Multiple CPT/PLA codes were added and removed across revisions for expanded and targeted panels (e.g., added 81336, 81405, 81408, 81479; removed 81329, 81403, 81408 in places).

addedLatest

Reworded background headings to match criteria sets. Added investigational criterion to Ashkenazi Jewish Carrier Panel Testing which was previously missing.

revisedLatest

Updated tests in Policy Reference Table. Updated FMR1 Repeat Analysis criteria name to distinguish carrier screening from diagnostic testing.

revisedLatest

Administrative alignment across policies. Minor rewording and background/reference page number updates throughout; moved General Criteria for Targeted Carrier Screening to separate policy 'Genetic Testing: General Approach to Genetic and Molecular Testing'.